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Full registry entry

Patient Id

 URHA372

Inhibitors

 ?

Mutation Type

 SUSTITUTION

Gen

 FVIII

Mutation effect

 MISSENSE

Region

 EXON

Exon inton number

 20

Affected Codon

 2021

Affected nucleotide

 6118

Mutation AA

 C2021G

Mutation Nuc

 6118T>G

Original-final codons

 TGT>GGT

Affected domain

 C1

Refrence

 -

AA change

 Cys>Gly

Diagnostic lab

 UDTM

Coagulopathy

 HA

Severity

 MILD

FactorC(%)

 6

FactorAg(%)

 -

Origin

 ?

ID

 196

 

   
 

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